Varaico: Literature-Extracted Genetic Variants

Gene:SV2C
Variant:p.R371W

SV2C

70 papers

Pfam Domains

Sugar_traa 134–428UCSCSugar (and other) transporter
LD_SV2aa 471–562UCSCSV2A/B/C luminal domain
MFS_1aa 571–725UCSCMajor Facilitator Superfamily

Gene Aliases

HGNC Name

synaptic vesicle glycoprotein 2C

HGNC Alias Symbol

SLC22B3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_014979.4
p.R371W
c.1111C>T
Surrounding Variants
1 paper
NM_014979.4
p.R371Q
c.1112G>A
1 paper
NM_014979.4
p.N367S
c.1100A>G
1 paper
NM_014979.4
p.T379M
c.1136C>T
1 paper
NM_014979.4
p.W357*
c.1071G>A
1 paper
NM_014979.4
p.W357*
c.1070G>A
1 paper
NM_014979.4
p.E342K
c.1024G>A
1 paper
NM_014979.4
p.C330F
c.989G>T
1 paper
NM_014979.4
p.V321L
c.961G>C
1 paper
NM_014979.4
p.V321L
c.961G>T
1 paper
NM_014979.4
p.T385I
c.1154C>T
1 paper
NM_014979.4
p.V408fs
c.1222_1223fs
1 paper
NM_014979.4
p.V408delFs
c.1223delT
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